Mutation profile of BBS genes in patients with Bardet–Biedl syndrome: an Italian study
Sign Up to like & getrecommendations! Published in 2019 at "Italian Journal of Pediatrics"
DOI: 10.1186/s13052-019-0659-1
Abstract: BackgroundBardet–Biedl syndrome (BBS) is a rare inherited multisystemic disorder with autosomal recessive or complex digenic triallelic inheritance. There is currently no treatment for BBS, but some morbidities can be managed. Accurate molecular diagnosis is often… read more here.
Keywords: mutation; genes patients; mutation profile; bbs genes ... See more keywords